Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1968 1
1969 5
1970 7
1971 11
1972 6
1973 7
1974 14
1975 5
1976 14
1977 6
1978 5
1979 6
1980 4
1981 6
1982 7
1983 13
1984 13
1985 19
1986 17
1987 13
1988 11
1989 12
1990 6
1991 16
1992 9
1993 13
1994 12
1995 14
1996 18
1997 14
1998 14
1999 12
2000 16
2001 21
2002 14
2003 12
2004 9
2005 10
2006 9
2007 14
2008 16
2009 23
2010 20
2011 21
2012 19
2013 14
2014 26
2015 20
2016 12
2017 13
2018 17
2019 9
2020 9
2021 12
2022 11
2023 11
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

656 results

Results by year

Filters applied: . Clear all
Page 1
Thanatophoric dwarfism.
Kaufman RL, Rimoin DL, McAlister WH, Kissane JM. Kaufman RL, et al. Am J Dis Child. 1970 Jul;120(1):53-7. doi: 10.1001/archpedi.1970.02100060087013. Am J Dis Child. 1970. PMID: 4987261 No abstract available.
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay a …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism …
Brain and bone abnormalities of thanatophoric dwarfism.
Miller E, Blaser S, Shannon P, Widjaja E. Miller E, et al. AJR Am J Roentgenol. 2009 Jan;192(1):48-51. doi: 10.2214/AJR.08.1524. AJR Am J Roentgenol. 2009. PMID: 19098178 Review.
OBJECTIVE: The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism. CONCLUSION: The bony abnormalities associated with thanatophoric dwarfism …
OBJECTIVE: The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwa …
Thanatophoric dwarfism.
Kozlowski K, Prokop E, Zybaczynski J. Kozlowski K, et al. Br J Radiol. 1970 Aug;43(512):565-8. doi: 10.1259/0007-1285-43-512-565. Br J Radiol. 1970. PMID: 5433367 No abstract available.
Thanatophoric dwarfism.
Shah K, Astley R, Cameron AH. Shah K, et al. J Med Genet. 1973 Sep;10(3):243-52. doi: 10.1136/jmg.10.3.243. J Med Genet. 1973. PMID: 4204337 Free PMC article.
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, t …
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiolo …
Thanatophoric dwarfism.
Southion CL. Southion CL. Australas Radiol. 1972 Sep;16(3):316-9. doi: 10.1111/j.1440-1673.1972.tb01372.x. Australas Radiol. 1972. PMID: 4676458 No abstract available.
Thanatophoric dwarfism.
Keats TE, Riddervold HO, Michaelis LL. Keats TE, et al. Am J Roentgenol Radium Ther Nucl Med. 1970 Mar;108(3):473-80. doi: 10.2214/ajr.108.3.473. Am J Roentgenol Radium Ther Nucl Med. 1970. PMID: 5415922 No abstract available.
Thanatophoric Dysplasia.
French T, Savarirayan R. French T, et al. 2004 May 21 [updated 2023 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 May 21 [updated 2023 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301540 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. ...
CLINICAL CHARACTERISTICS: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the …
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. ...The prenatal features of the most common skeletal dysplasias …
The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities af …
Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.
DeGenova DT, Wing AO, Perugini AJ, Petersen MJ, Misbrener E, Tulchin-Francis K, Kadado A. DeGenova DT, et al. JBJS Case Connect. 2023 Jul 27;13(3). doi: 10.2106/JBJS.CC.23.00183. eCollection 2023 Jul 1. JBJS Case Connect. 2023. PMID: 37499053
CASE: We report the rare case of a 3-year-old male patient with thanatophoric dwarfism, a fatal skeletal dysplasia that arises from an autosomal dominant mutation in the fibroblast growth factor receptor 3 gene. ...
CASE: We report the rare case of a 3-year-old male patient with thanatophoric dwarfism, a fatal skeletal dysplasia that …
656 results